A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report (Q60908834)

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scientific article published on 14 January 2019

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Language	Label	Description	Also known as
English	A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report	scientific article published on 14 January 2019

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instance of

scholarly article

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Europe PubMed Central

PMC publication ID

6332642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 April 2020

case report

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title

A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report (English)

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stated in

Europe PubMed Central

PMC publication ID

6332642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 April 2020

main subject

muscular dystrophy

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author

Eslam Shorafa

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2

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Europe PubMed Central

PMC publication ID

6332642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 April 2020

Parham Habibzadeh

series ordinal

4

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Europe PubMed Central

PMC publication ID

6332642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

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19 April 2020

Amir Saeed

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6

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Europe PubMed Central

PMC publication ID

6332642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

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19 April 2020

Seyed Alireza Dastgheib

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10

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Europe PubMed Central

PMC publication ID

6332642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

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19 April 2020

author name string

Fateme Ziyaee

series ordinal

1

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Europe PubMed Central

PMC publication ID

6332642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

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19 April 2020

Hassan Dastsooz

series ordinal

3

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Europe PubMed Central

PMC publication ID

6332642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

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19 April 2020

Hamid Nemati

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5

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Europe PubMed Central

PMC publication ID

6332642

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19 April 2020

Mohammad Silawi

series ordinal

7

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PMC publication ID

6332642

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19 April 2020

Mohammad Ali Farazi Fard

series ordinal

8

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Europe PubMed Central

PMC publication ID

6332642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

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19 April 2020

Mohammad Ali Faghihi

series ordinal

9

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Europe PubMed Central

PMC publication ID

6332642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 April 2020

language of work or name

English

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publication date

14 January 2019

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Europe PubMed Central

PMC publication ID

6332642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 April 2020

published in

BMC Medical Genetics

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stated in

Europe PubMed Central

PMC publication ID

6332642

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 April 2020

volume

20

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Europe PubMed Central

PMC publication ID

6332642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

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19 April 2020

issue

1

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Europe PubMed Central

PMC publication ID

6332642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

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19 April 2020

page(s)

13

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PMC publication ID

6332642

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retrieved

19 April 2020

copyright license

Creative Commons Attribution 4.0 International

start time

14 January 2019

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April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Rigid spine syndrome: a muscle syndrome in search of a name.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The muscular dystrophies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of mammalian selenoproteomes.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital muscular dystrophies: new aspects of an expanding group of disorders

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Limb–girdle muscular dystrophies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscular dystrophies due to glycosylation defects

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Consensus statement on standard of care for congenital muscular dystrophies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SEPN1-related myopathies: clinical course in a large cohort of patients

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disorders of selenium metabolism and selenoprotein function

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Selenium and human health.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Selenoprotein N in skeletal muscle: from diseases to function.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ever-expanding spectrum of congenital muscular dystrophies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Selenium and selenocysteine: roles in cancer, health, and development

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Keshan disease, selenium deficiency, and the selenoproteome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Selenoprotein Gene Nomenclature

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30642275

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1186/S12881-018-0743-1

1 reference

stated in

Europe PubMed Central

PMC publication ID

6332642

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 April 2020

PMC publication ID

6332642

1 reference

stated in

Europe PubMed Central

PMC publication ID

6332642

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 April 2020

PubMed publication ID

30642275

1 reference

stated in

Europe PubMed Central

PMC publication ID

6332642

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30642275%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 April 2020

 

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